title: Mutation in the thyroid hormone receptor beta gene (A317T) in a Thai subject with resistance to thyroid hormone.
abstract: Analysis of the thyroid hormone receptor beta (TRbeta) gene of a Thai female with the syndrome of resistance to thyroid hormone (RTH) revealed a missense mutation at codon 317, changing the guanine in nucleotide 1234 to an adenine that results in the replacement of the normal alanine (GCT) with a threonine (ACT). The proposita was heterozygous, and this mutation was not present in her parents and her sister, compatible with a neomutation. This is the first report of TRbeta gene mutation causing RTH in an individual of Thai origin.
authors.affiliation: Department of Medicine, Rajavithi Hospital, Bangkok, Thailand.
authors.forename: T
authors.initials: T
authors.lastname: Sunthornthepvarakul
authors.forename: K
authors.initials: K
authors.lastname: Angsusingha
authors.forename: S
authors.initials: S
authors.lastname: Likitmaskul
authors.forename: S
authors.initials: S
authors.lastname: Ngowngarmratana
authors.forename: S
authors.initials: S
authors.lastname: Refetoff
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics / Q000502:physiology; D002648:Child; D004351:Drug Resistance / Q000235:genetics; D005260:Female; D006042:Goiter / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics / Q000502:physiology; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D013785:Thailand; D013963:Thyroid Hormones / Q000627:therapeutic use*
chemical_list: D011988:Receptors, Thyroid Hormone; D013963:Thyroid Hormones